Yi Jun, Yun Jun, Li Zhi-Kui, Xu Chang-Tai, Pan Bo-Rong
Department of Vascular Endocrine Surgery, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, Shaanxi Province, China.
Int J Ophthalmol. 2011;4(4):422-32. doi: 10.3980/j.issn.2222-3959.2011.04.20. Epub 2011 Aug 18.
Congenital cataract is a crystallin severe blinding disease and genetic factors in disease development are important. Crystallin growth is under a combination of genes and their products in time and space to complete the coordination role of the guidance. Congenital cataract-related genes, included crystallin protein gene (CRYAA, CRYAB, CRYBA1/A3, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS), gap junction channel protein gene (GJA1, GJA3, GJA8), membrane protein gene (GJA3, GJA8, MIP, LIM2), cytoskeletal protein gene (BF-SP2), transcription factor genes (HSF4, MAF, PITX3, PAX6), ferritin light chain gene (FTL), fibroblast growth factor (FGF) and so on. Currently, there are about 39 genetic loci isolated to which primary cataracts have been mapped, although the number is constantly increasing and depends to some extent on definition. We summarized the recent advances on epidemiology and genetic locations of congenital cataract in this review.
先天性白内障是一种由晶状体蛋白导致的严重致盲性疾病，疾病发展中的遗传因素很重要。晶状体蛋白的生长在基因及其产物的共同作用下，在时间和空间上完成协调指导作用。与先天性白内障相关的基因，包括晶状体蛋白基因（CRYAA、CRYAB、CRYBA1/A3、CRYBA4、CRYBB1、CRYBB2、CRYBB3、CRYGC、CRYGD、CRYGS）、缝隙连接通道蛋白基因（GJA1、GJA3、GJA8）、膜蛋白基因（GJA3、GJA8、MIP、LIM2）、细胞骨架蛋白基因（BF-SP2）、转录因子基因（HSF4、MAF、PITX3、PAX6）、铁蛋白轻链基因（FTL）、成纤维细胞生长因子（FGF）等。目前，大约有39个已分离的基因位点被定位到原发性白内障，尽管这个数字在不断增加，并且在一定程度上取决于定义。在本综述中，我们总结了先天性白内障在流行病学和基因定位方面的最新进展。
